Djurovic, Jelena (24778181900)Jelena (24778181900)DjurovicStojkovic, Oliver (35618950700)Oliver (35618950700)StojkovicTodorovic, Jelena (56641105000)Jelena (56641105000)TodorovicBrajic, Aleksandra (56578623500)Aleksandra (56578623500)BrajicStankovic, Sanja (7005216636)Sanja (7005216636)StankovicObradovic, Svetlana (57191970242)Svetlana (57191970242)ObradovicStamenkovic, Gorana (6508293958)Gorana (6508293958)Stamenkovic2025-06-122025-06-122017https://doi.org/10.1080/14647273.2016.1255785https://www.scopus.com/inward/record.uri?eid=2-s2.0-84995639970&doi=10.1080%2f14647273.2016.1255785&partnerID=40&md5=4ef0e3b54dbea9f4e631d77a5a47ed7chttps://remedy.med.bg.ac.rs/handle/123456789/7048Reproductive failure (recurrent foetal loss, unexplained infertility and IVF implantation failure) may be, in a number of cases, explained by thrombophilia, either acquired or inherited. Several genes contribute to thrombophilia, some with major effect (Factor V, Factor II), and some with minor effect (MTHFR, PAI-1, ATIII, etc.). The aim of this study was to estimate frequency of thrombophilia-associated genotypes (FII20210G > A, FV1691G > A, MTHFR677C > T and PAI-1 -675 4G/5G) in a group of 1631 Serbian women experiencing reproductive failure, and compare it with a healthy, female control group. Our results showed marginally significant (p = 0.050) differences in allele frequencies between patients and controls for the FV1691 mutations. For the FII20210G > A, although the statistical significance was not achieved (p = 0.076), we found higher frequency of variant allele in patients compared to controls (1.87% vs. 0.38%, respectively) which may point to a possible role of this polymorphism in thrombotic events. For the MTHFR677C > T and PAI-1 -675 4G/5G, we found no difference in distributions of genotype or allele frequencies between these two groups (p > 0.05). For three subjects with very rare genotypes (two patients homozygous for FV1691G > A and one patient homozygous for FII20210G > A) we performed additional biochemical analyses for haemostasis, as well as genotyping of two polymorphisms (MTHFR1298A > C and ATIII786G > A). © 2016 The British Fertility Society.ATIIIFemale infertilityFII 20210 G > AFV leidenhomozygous mutationinherited thrombophiliaMTHFRPAI-1